Varaico: Literature-Extracted Genetic Variants

BRCA1

8,702 papers

RefSeq Summary

This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of ...

Pfam Domains

zf-RING_UBOXaa 24–52UCSCRING-type zinc-finger

zf-C3HC4aa 24–64UCSCZinc finger, C3HC4 type (RING finger)

BRCT_assocaa 345–508UCSCSerine-rich domain associated with BRCT

BRCTaa 1642–1723UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 1756–1842UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

BRCA1 DNA repair associated

HGNC Alias Symbols

RNF53; BRCC1; PPP1R53; FANCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

57 papers

NM_007294.4

p.V757delFs

c.2269delC

Surrounding Variants

1 paper

NM_007294.4

p.V757G

c.2270T>G

1 paper

NM_007294.4

p.R756_V757delFs

c.2268_2269delCC

1 paper

NM_007294.4

p.E755_R756del2

c.2263_2267del6

16 papers

NM_007294.4

p.V757fs

c.2269_2270fs

2 papers

NM_007294.4

p.V757delFs

c.2269_2270delAC

22 papers

NM_007294.4

p.V757fs

c.2269_2270fs

1 paper

NM_007294.4

p.V757F

c.2269G>T

1 paper

NM_007294.4

p.V757I

c.2269G>A

2 papers

NM_007294.4

p.L758_Q759insT

c.2272_2276ins3

1 paper

NM_007294.4

p.E745_V757del13

c.2233_2270del39

16 papers

NM_007294.4

p.R756S

c.2268G>T

1 paper

NM_007294.4

p.R756fs

c.2266_2267fs